GENE	LOCUS or SYNDROME	AMINO ACID CHANGE	NUCLEOTIDE CHANGE	EXON	ETHNICITY (Number of families)	REFERENCES
NDP	Norrie Disease		3insCTCTCTCTCT	exon 1	N/A (1)	Schuback 1995
			16dup12	exon 1	N/A (1)	Sims 1997 (Personal Commun.)
			160del6
			IVS1+1G>A		N/A (1)	Fuchs 1996
		1	delTG	exon 2	??	Cabellero 1996
		M1R	410T>G	exon 2	N/A (1)	Schuback 1995
		M1V	A>G	exon 2	Japanese (2); ??	Isashiki 1995a; Gal 1996
			443insATCC	exon 2	N/A (1)	Berger 1992
			448delT	exon 2	N/A (1)	Sims 1997 (Personal Commun.)
		L13R	454T>G	exon 2	Cuban (1)	Fuchs 1994
		L16P	T>C	exon 2	Thai (1)	Yamada 2001
			*Presents with epileptic seizures
		21	473delC	exon 2	N/A (1)	Schuback 1995
		S29X	502C>G	exon 2	N/A (1)	Meindl 1992
		D35FS	del1	exon 2	N/A (1)	Chynn 1996
		R37X	517C>T	exon 2	N/A (1)	Sims 1997 (Personal Commun.)
		C39R		exon 2	White (1)	Joos 1994
			insCAC	exon 2	N/A (1)	Sims 1997 (Personal Commun.)
		44	543delG	exon 2	N/A (1)	Schuback 1995
		43	544insA			Cabellero 1996
		Y44C	547A>G	exon 2	N/A (1)	Meindl 1992
		V45A	542T>C	exon 2	N/A (1)	Sims 1997 (Personal Commun.)
		L52X	563T>A	exon 2	N/A (1)	Sims 1997 (Personal Commun.)
		K54N	G>C	exon 2		Hoefsloot 2000?
		C55X
		S57X	586C>G	exon 2	Danish (1)	Berger 1992
		K58D
		K58N	G>T	exon 2	Spanish (1)	Fuentes 1993
			*Also found in FEVR
			IVS2+1G>C		N/A (1)	Fuchs 1996
		V60E	595T>A	exon 3	N/A (1)	Meindl 1992
		L61F	597C>T	exon 3	Danish (1); Costa Rican (1)	Berger 1992; Rehm 1997
		L61P	590T>C	exon 3	N/A (1)	Schuback 1995
		L62P		exon 3	N/A (1)	Zhu 1993
		A63D	596C>A	exon 3	N/A (1); Polish (1)	Schuback 1995; Zaremba 1998
		A63S	G>T	exon 3		Novelli 1999?
		C65W	603C>G	exon 3	N/A (1)	Schuback 1995
		C65X	603C>A	exon 3	N/A (1)	Sims 1997 (Personal Commun.)
		C65Y	602G>A	exon 3	N/A (1)	Strasberg 1995
		C68FS	613delT	exon 3	N/A (1)	Schuback 1995
		C69S	614G>C	exon 3	N/A (1) - female	Chen 1993a
		C69Y
		S73X	626C>A	exon 3	N/A (1)	Walker 1997
		R74C	628C>T	exon 3	N/A (1); ??; N/A (1); N/A (1)	Berger 1992; Meindl (Unpub?); Fuchs 1996; Sims 1997 (Personal Commun.)
		S75C	640C>G	exon 3	N/A (1)	Berger 1992
		S75P	T>C	exon 3	Thai (1)	Yamada 2001
			*Presents with epileptic seizures
		E76X	634G>T	exon 3	N/A (1)	Sims 1997 (Personal Commun.)
		78del3	642del9	exon 3	N/A (1)	Sims 1997 (Personal Commun.)
		F89L
		R90P	677G>C	exon 3	N/A (1); N/A (1)	Berger 1992; Sims 1997 (Personal Commun.)
		H94E
		C95L
		C95R	T>C	exon 3	Japanese (1)	Isashiki 1995b
		C96W	C>G	exon 3	N/A (1)	Black 1999
			*Mother had Coats' Disease
		C96Y	703G>A	exon 3	N/A (1); N/A (1)	Berger 1992; Meindl 1992
		96	706delG	exon 3	N/A (1)	Berger 1992
		S101F	710C>T	exon 3	N/A (1)	Walker 1997
		K104Q	726A>C	exon 3	N/A (1)	Meindl 1995
		A105T	721G>A	exon 3	Italian (1)	Torrente 1997
		R109X	733C>T	exon 3	N/A (1), Black (1); ??; N/A (1)	Schuback 1995; Mintz-Hittner 1996; Sims 1997 (Personal Commun.)
		C110R	T>C	exon 3	N/A (1); N/A (1)	Zhu 1993; Fuchs 1996
		C110X	746C>A	exon 3	N/A (2)	Berger 1992
			757del2	exon 3	N/A (1)	Schorderet ??
		121del3	768del9	exon 3	N/A (1)	Schuback 1995
		R121G		exon 3	N/A (1)	Zhu 1993
			*Also found in FEVR
		R121Q	770G>A	exon 3	Spanish (1); N/A (1); N/A (1)	Fuentes 1993; Meindl 1995; Sims 1997 (Personal Commun.)
		R121W	777C>T	exon 3	N/A (1); ??	Meindl 1995; Kellner 1996
			*Also found in FEVR and ROP
		I123N	776T>A	exon 3	N/A (2); White (1)	Schuback 1995; Sims 1997
		C126S		exon 3	??	Gal 1996
		C126X	T>A	exon 3	N/A (1); ??	Fuchs 1996; Kellner 1996
		C128X	C>A	exon 3	N/A (1); N/A (2)	Schuback 1995; Sims 1997 (Personal Commun.)
		C128X	GC>AA	exon 3	N/A (1)	Wong 1993
		132	813delT	exon 3	N/A (1)	Berger 1992
			del 2-10 kb	exon 2	N/A (1)	Chen 1993
			del 4kb	exon 2	N/A (1)	Chen 1993
			del 5kb	exon 2	N/A (1)	Chen 1993
			del 7kb	exon 3	N/A (1)	Chen 1993
			del	exon 2	N/A (1)	Schuback 1995
			del	exon 2-3	N/A (1)	Schuback 1995
			del	exon 3	N/A (1)	Schuback 1995
			del	exon 3	N/A (1)	Schuback 1995
			del	exon 3	N/A (1)	Schuback 1995
			del >20kb	exon 3 + MAOB	N/A (1)	Chen 1993
				exon 3 + MAOB	N/A (1)	Schuback 1995
		H94E,insG,C96L	694ins4, del1	exon 3	N/A (1)	Schuback 1995
			chromosomal inversion		N/A (1)	Pettenati 1993
			X;6 translocation		N/A (1)	Meire 1998
			X;10 translocation		N/A (1) - female	Ohba 1986
	Familial Exudative Vitreoretinopathy	R41K	G>A	exon 2	N/A (1)	Shastry 1997a
		H42R	A>G	exon 2	N/A (2)	Shastry 1997a
		K58N	G>T	exon 2	N/A (1)	Shastry 1997a
			*Also found in ND
		C110G	736T>G	exon 3	Italian (1)	Torrente 1997
		G112E
		G113D	C>T	exon 3	N/A (1)	Shastry 1998
		Y120C	A>G	exon 3	N/A (1)	Shastry 1997a
		R121G		exon 3
			*Also found in ND
		R121L	770G>T	exon 3	Hispanic (1); ??; N/A (1)	Johnson 1996; Mintz-Hittner 1996; Sims 1997 (Personal Commun.)
			*Also found in ND
		R121W	777C>T	exon 3	N/A (1); N/A (1)	Fuchs 1995; Shastry 1995
			*Also found in ND and ROP
		L124F	C>T	exon 3	N/A (1)	Chen 1993b
	Retinopathy of Prematurity	L108P	T>C	exon 3	N/A (1)	Shastry 1997b
		R121W	777C>T	exon 3	??; N/A (2)	Shastry 1995b; Shastry 1997b
			*Also found in FEVR and ND
	Coats' Disease	C96W	C>G	exon 3	N/A (1)	Black 1999
			*Son had ND